RASSF4

Ras association domain family member 4, the group of Ras association domain family

Basic information

Region (hg38): 10:44959407-44995891

Links

ENSG00000107551NCBI:83937OMIM:610559HGNC:20793Uniprot:Q9H2L5AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RASSF4 gene.

  • not_specified (56 variants)
  • not_provided (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RASSF4 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000032023.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
1
clinvar
1
missense
49
clinvar
4
clinvar
4
clinvar
57
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 49 5 4
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RASSF4protein_codingprotein_codingENST00000340258 1036485
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
1.73e-130.015212563301151257480.000457
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.1401921980.9720.00001232090
Missense in Polyphen7183.7870.84739931
Synonymous-0.5218882.01.070.00000528610
Loss of Function-0.2311917.91.068.42e-7215

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.001630.00163
Ashkenazi Jewish0.0004020.000397
East Asian0.0001640.000163
Finnish0.000.00
European (Non-Finnish)0.0003600.000352
Middle Eastern0.0001640.000163
South Asian0.0002290.000229
Other0.001140.00114

dbNSFP

Source: dbNSFP

Function
FUNCTION: Potential tumor suppressor. May act as a KRAS effector protein. May promote apoptosis and cell cycle arrest. {ECO:0000269|PubMed:15574778}.;
Pathway
Hippo signaling pathway - multiple species - Homo sapiens (human) (Consensus)

Recessive Scores

pRec
0.0932

Intolerance Scores

loftool
0.917
rvis_EVS
0.73
rvis_percentile_EVS
86.27

Haploinsufficiency Scores

pHI
0.0992
hipred
N
hipred_score
0.230
ghis
0.491

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.602

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Rassf4
Phenotype

Gene ontology

Biological process
cell cycle;signal transduction
Cellular component
Molecular function
protein binding